A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243460



Internal ID21690969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22299622..22299622hg38UCSC Ensembl
chr12:22452556..22452556hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723569
Supporting Variants
Samples
Known GenesST8SIA1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17243460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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